Classical Ehlers-Danlos

Classical Ehlers-Danlos (cEDS) formally known as EDSIII it is inherited by autosomal dominant mutations with 90% of cEDS patients having a heterozygous mutation in one of the genes encoding type V collagen (COL5A1 and COL5A2) Rarely, specific mutations in the genes encoding type 1 collagen can be associated with a cEDS-phenotype. These are the heterozygous COL1A1  substitution. Patients with this mutation are at particular risk for vascular rupture compared to other COL1A1 arginine-to-cysteine substitutions. 

 

Minimal criteria to suggest a cEDS diagnosis are the first major criteria, plus either major criterion 2 and/or at least three minor criteria. Molecular testing is required to confirm a diagnosis.

Major Criteria:

1. Skin hyperextensibility and atrophic scarring;

2. Generalised joint hypermobility.

Minor Criteria:

1. Easy bruising;

2. Soft, doughy skins;

3. Skin fragility (or traumatic splitting);

4. Molluscoid pseudotumors;

5. Subcutaneous spheroids;

6. Hernia (or history thereof);

7. Epicanthal folds;

8. Complications of joint hypermobility (e.g., sprains, luxation/subluxation, plain, flexible flatfoot)

9. Family history of a first-degree relative who meets clinical criteria. 

For more information see The Ehlers-Danlos Society

References

The 2017 International Classification of the Ehlers–Danlos Syndromes

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